GORAB

Summary

GORAB (golgin, RAB6 interacting, HGNC:25676) is a protein-coding gene on chromosome 1q24.2, encoding RAB6-interacting golgin (Q5T7V8).

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 92344 — RefSeq curated summary.

At a glance

• Gene–disease (curated): geroderma osteodysplastica (Definitive, ClinGen)
• GWAS associations: 41
• Clinical variants (ClinVar): 429 total — 39 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 57
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_152281

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25676
Approved symbol	GORAB
Name	golgin, RAB6 interacting
Location	1q24.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11752, NTKL-BP1, GO
Ensembl gene	ENSG00000120370
Ensembl biotype	protein_coding
OMIM	607983
Entrez	92344

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 9 retained_intron, 9 nonsense_mediated_decay, 7 protein_coding_CDS_not_defined, 3 protein_coding

ENST00000367762, ENST00000367763, ENST00000465717, ENST00000475113, ENST00000498166, ENST00000498600, ENST00000684929, ENST00000685515, ENST00000685976, ENST00000686021, ENST00000686135, ENST00000686870, ENST00000687370, ENST00000687880, ENST00000688499, ENST00000688688, ENST00000689173, ENST00000690124, ENST00000690898, ENST00000691051, ENST00000691199, ENST00000691235, ENST00000691574, ENST00000692234, ENST00000692855, ENST00000692875, ENST00000693173, ENST00000693373

RefSeq mRNA: 4 — MANE Select: NM_152281 NM_001146039, NM_001320252, NM_001410894, NM_152281

CCDS: CCDS1289, CCDS53428, CCDS91103

Canonical transcript exons

ENST00000367763 — 5 exons

Exon	Start	End
ENSE00001445586	170532166	170532284
ENSE00003472460	170542491	170542592
ENSE00003556750	170552015	170553834
ENSE00003598485	170544705	170544845
ENSE00003687393	170539210	170539567

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 90.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.3262 / max 113.1475, expressed in 1760 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6544	6.9564	1748
6545	1.1831	776
6546	0.1868	56

Top tissues by expression

253 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	90.87	gold quality
rectum	UBERON:0001052	87.38	gold quality
endothelial cell	CL:0000115	87.12	gold quality
tibia	UBERON:0000979	87.10	gold quality
epithelial cell of pancreas	CL:0000083	86.58	gold quality
epithelium of nasopharynx	UBERON:0001951	85.76	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.46	gold quality
cartilage tissue	UBERON:0002418	85.32	gold quality
palpebral conjunctiva	UBERON:0001812	84.74	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.72	gold quality
right ovary	UBERON:0002118	84.36	gold quality
stromal cell of endometrium	CL:0002255	84.20	gold quality
left adrenal gland	UBERON:0001234	83.95	gold quality
left adrenal gland cortex	UBERON:0035825	83.86	gold quality
descending thoracic aorta	UBERON:0002345	83.75	gold quality
left ovary	UBERON:0002119	83.67	gold quality
endocervix	UBERON:0000458	83.43	gold quality
endometrium	UBERON:0001295	83.43	gold quality
body of pancreas	UBERON:0001150	83.34	gold quality
right coronary artery	UBERON:0001625	83.15	gold quality
transverse colon	UBERON:0001157	82.77	gold quality
ectocervix	UBERON:0012249	82.76	gold quality
germinal epithelium of ovary	UBERON:0001304	82.75	gold quality
ovary	UBERON:0000992	82.71	gold quality
lymph node	UBERON:0000029	82.61	gold quality
mucosa of transverse colon	UBERON:0004991	82.41	gold quality
adrenal gland	UBERON:0002369	82.40	gold quality
subcutaneous adipose tissue	UBERON:0002190	82.39	gold quality
adenohypophysis	UBERON:0002196	82.35	gold quality
tibial artery	UBERON:0007610	82.31	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting GORAB, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-30A-3P	99.87	69.74	2928

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 12)

• assessment of interaction with hPirh2 (PMID:15781263)
• Study demonstrates that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. (PMID:18997784)
• study supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of geroderma osteodysplastica (PMID:19681135)
• The chemotaxis signal pathway induced by chemokines CKbeta8 and CKbeta8-1 is mediated via the Gi/Go protein, phospholipase C (PLC) and protein kinase C delta (PKC delta). (PMID:19951712)
• Data suggest that SCYL1-BP1 is a novel regulator of the MDM2-p53 feedback loop and that it may be a potential tumor suppressor. (PMID:20849854)
• SCYL1BP1 can promote the degradation of MDM2 protein and further inhibit the G1/S transition of lung SCC lines. Reintroduction of SCYL1BP1 into lung SCC lines significantly inhibited cell proliferation, migration, invasion and tumor formation. (PMID:25227860)
• SCYL1-BP1 plays a critical role in the regulation of EEA1, BMPR2 and BRCA2 expression. (PMID:25234469)
• rs17684886 (ZNRF1) and rs599019 (COLEC12) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes (PMID:25819896)
• SCYL1- BP1 affects the cell cycle through increasing steady state levels of Cyclin F and RRM2 proteins, thus constituting a dual regulatory circuit (PMID:25980818)
• in the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability (PMID:27604556)
• Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient. (PMID:28807865)
• Loss of RAB6-interacting golgin (GORAB) causes impairment of coat protein complex I (COPI)-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. (PMID:30631079)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gorab	ENSDARG00000042031
mus_musculus	Gorab	ENSMUSG00000040124
rattus_norvegicus	Gorab	ENSRNOG00000003861
drosophila_melanogaster	Gorab	FBGN0053052

Protein

Protein identifiers

RAB6-interacting golgin — Q5T7V8 (reviewed: Q5T7V8)

Alternative names: N-terminal kinase-like-binding protein 1, SCY1-like 1-binding protein 1

All UniProt accessions (7): A0A8I5KSF7, A0A8I5KV22, A0A8I5KW31, A0A8I5KW97, A0A8I5KX22, Q5T7V8, R4GMT2

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with SCYL1. Interacts with RCHY1 and RAB6A/RAB6.

Subcellular location. Cytoplasm. Golgi apparatus.

Disease relevance. Geroderma osteodysplasticum (GO) [MIM:231070] A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the GORAB family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T7V8-1	1	yes
Q5T7V8-2	2

RefSeq proteins (4): NP_001139511, NP_001307181, NP_001397823, NP_689494* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007033	GORAB	Family

Pfam: PF04949

UniProt features (15 total): compositionally biased region 5, region of interest 3, sequence conflict 3, chain 1, splice variant 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T7V8-F1	71.86	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 218 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPIDERMIS_MORPHOGENESIS, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, LIAO_METASTASIS, GOBP_MOLTING_CYCLE, GOBP_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY, GOBP_EPIDERMIS_DEVELOPMENT, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_SMOOTHENED_SIGNALING_PATHWAY, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY, GOBP_SKIN_DEVELOPMENT

GO Biological Process (4): dorsal/ventral neural tube patterning (GO:0021904), hair follicle morphogenesis (GO:0031069), positive regulation of smoothened signaling pathway (GO:0045880), non-motile cilium assembly (GO:1905515)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
cytoplasm	2
dorsal/ventral pattern formation	1
neural tube patterning	1
hair follicle development	1
anatomical structure morphogenesis	1
hair cycle process	1
epidermis morphogenesis	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	1
cilium assembly	1
binding	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

576 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GORAB	SCYL1	Q96KG9	984
GORAB	RAB6A	P20340	975
GORAB	RCHY1	Q96PM5	944
GORAB	PYCR1	P32322	823
GORAB	ATP6V0A2	Q9Y487	742
GORAB	ARF5	P26437	656
GORAB	PDIK1L	Q8N165	644
GORAB	EFEMP2	O95967	638
GORAB	RIN2	Q8WYP3	587
GORAB	FBLN5	Q9UBX5	557
GORAB	PHETA1	Q8N4B1	533
GORAB	UBE2D2	P51669	525
GORAB	PTPRK	Q15262	525
GORAB	KRT71	Q3SY84	521
GORAB	MYLK2	Q9H1R3	515

IntAct

181 interactions, top by confidence:

A	B	Type	Score
CMTM7	GORAB	psi-mi:“MI:0915”(physical association)	0.560
	GORAB	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	GORAB	psi-mi:“MI:0915”(physical association)	0.560
TRAF3IP3	GORAB	psi-mi:“MI:0915”(physical association)	0.560
CXCL16	GORAB	psi-mi:“MI:0915”(physical association)	0.560
EMD	GORAB	psi-mi:“MI:0915”(physical association)	0.560
TMEM14C	GORAB	psi-mi:“MI:0915”(physical association)	0.560
ABHD16A	GORAB	psi-mi:“MI:0915”(physical association)	0.560
VAMP3	GORAB	psi-mi:“MI:0915”(physical association)	0.560
VAMP5	GORAB	psi-mi:“MI:0915”(physical association)	0.560
TMEM128	GORAB	psi-mi:“MI:0915”(physical association)	0.560
GORAB	VKORC1	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	GORAB	psi-mi:“MI:0915”(physical association)	0.560
GORAB	CMTM7	psi-mi:“MI:0915”(physical association)	0.560
GORAB	STX8	psi-mi:“MI:0915”(physical association)	0.560
TTMP	GORAB	psi-mi:“MI:0915”(physical association)	0.560
GORAB	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	GORAB	psi-mi:“MI:0915”(physical association)	0.560
MS4A1	GORAB	psi-mi:“MI:0915”(physical association)	0.560
GORAB	TMEM60	psi-mi:“MI:0915”(physical association)	0.560
SEC22B	GORAB	psi-mi:“MI:0915”(physical association)	0.560
GORAB	TSPAN33	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (120): GORAB (Proximity Label-MS), GORAB (Proximity Label-MS), GORAB (Affinity Capture-MS), GORAB (Affinity Capture-MS), GORAB (Affinity Capture-MS), GORAB (Affinity Capture-MS), GORAB (Affinity Capture-MS), GORAB (Biochemical Activity), GORAB (Proximity Label-MS), GORAB (Proximity Label-MS), SCYL1 (Two-hybrid), GORAB (Two-hybrid), GORAB (Two-hybrid), SCYL1 (Reconstituted Complex), Scyl1 (Reconstituted Complex)

ESM2 similar proteins: A5PKK7, A8E4X8, B1H222, O75665, Q13625, Q28C41, Q2T9X8, Q4KMA0, Q4R8V8, Q4V891, Q4V8E4, Q5M834, Q5RBY6, Q5RDH2, Q5T7V8, Q5U465, Q5XI03, Q5ZKM0, Q6A098, Q6NRH3, Q6NS45, Q6PCG6, Q7T320, Q7TNY7, Q7ZWE6, Q80VN0, Q80Z25, Q86YF9, Q86Z20, Q8BFU3, Q8BRM2, Q8BVV7, Q8C6E0, Q8CG79, Q8IYJ2, Q8K3I4, Q8N0Z3, Q8N9B5, Q8ND24, Q8NFW9

Diamond homologs: A5PKK7, B1H222, Q5T7V8, Q7T320, Q8BRM2, Q8IQQ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

429 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	39
Likely pathogenic	7
Uncertain significance	165
Likely benign	168
Benign	24

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1355774	NM_152281.3(GORAB):c.276del (p.Ser93fs)	Pathogenic
1360242	NM_152281.3(GORAB):c.79C>T (p.Arg27Ter)	Pathogenic
1399028	NM_152281.3(GORAB):c.411del (p.Val138fs)	Pathogenic
1703424	NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)	Pathogenic
2024831	NM_152281.3(GORAB):c.559del (p.Arg187fs)	Pathogenic
218115	NM_152281.3(GORAB):c.658G>C (p.Ala220Pro)	Pathogenic
2436670	NM_152281.3(GORAB):c.190C>T (p.Gln64Ter)	Pathogenic
2650	NM_152281.3(GORAB):c.367G>T (p.Glu123Ter)	Pathogenic
2653	NM_152281.3(GORAB):c.662+5G>C	Pathogenic
2654	GORAB, 1-BP DEL, 257C	Pathogenic
2700677	NM_152281.3(GORAB):c.453del (p.Glu152fs)	Pathogenic
2701309	NM_152281.3(GORAB):c.556_557del (p.Lys186fs)	Pathogenic
2710660	NM_152281.3(GORAB):c.650_660del (p.Tyr217fs)	Pathogenic
2712315	NC_000001.11:g.170532156G>A	Pathogenic
2718034	NM_152281.3(GORAB):c.726_727del (p.Glu243fs)	Pathogenic
2722014	NM_152281.3(GORAB):c.301C>T (p.Gln101Ter)	Pathogenic
2734027	NM_152281.3(GORAB):c.136G>T (p.Glu46Ter)	Pathogenic
2753828	NM_152281.3(GORAB):c.221del (p.Asn74fs)	Pathogenic
2766333	NM_152281.3(GORAB):c.7C>T (p.Gln3Ter)	Pathogenic
2771740	NM_152281.3(GORAB):c.492dup (p.Ala165fs)	Pathogenic
2791339	NM_152281.3(GORAB):c.206dup (p.Gln71fs)	Pathogenic
2792725	NC_000001.11:g.170532158_170532179dup	Pathogenic
2816721	NM_152281.3(GORAB):c.139C>T (p.Gln47Ter)	Pathogenic
2826473	NM_152281.3(GORAB):c.-11G>A	Pathogenic
2832462	NM_152281.3(GORAB):c.14G>A (p.Trp5Ter)	Pathogenic
2840751	NM_152281.3(GORAB):c.53del (p.Gln18fs)	Pathogenic
2870262	NM_152281.3(GORAB):c.409A>T (p.Lys137Ter)	Pathogenic
2872040	NM_152281.3(GORAB):c.216_217del (p.Arg72fs)	Pathogenic
2886885	NM_152281.3(GORAB):c.483del (p.Lys161fs)	Pathogenic
2958872	NM_152281.3(GORAB):c.744_747del (p.Thr249fs)	Pathogenic

SpliceAI

911 predictions. Top by Δscore:

Variant	Effect	Δscore
1:170536290:T:A	acceptor_gain	1.0000
1:170539207:T:G	acceptor_gain	1.0000
1:170539366:T:G	donor_gain	1.0000
1:170539557:A:T	donor_gain	1.0000
1:170539568:GTTA:G	donor_gain	1.0000
1:170539569:TTA:T	donor_gain	1.0000
1:170539572:G:GG	donor_gain	1.0000
1:170542481:T:A	acceptor_gain	1.0000
1:170542486:CCTA:C	acceptor_loss	1.0000
1:170542487:CTA:C	acceptor_loss	1.0000
1:170542488:TA:T	acceptor_loss	1.0000
1:170542489:A:AG	acceptor_gain	1.0000
1:170542489:AG:A	acceptor_gain	1.0000
1:170542490:G:A	acceptor_gain	1.0000
1:170542490:G:GT	acceptor_gain	1.0000
1:170542490:GGC:G	acceptor_gain	1.0000
1:170542490:GGCA:G	acceptor_gain	1.0000
1:170542490:GGCAA:G	acceptor_gain	1.0000
1:170542540:G:GT	donor_gain	1.0000
1:170542591:AG:A	donor_loss	1.0000
1:170542626:ACCT:A	donor_gain	1.0000
1:170544688:C:G	acceptor_gain	1.0000
1:170544690:T:G	acceptor_gain	1.0000
1:170544691:ACCT:A	acceptor_gain	1.0000
1:170544703:A:AG	acceptor_gain	1.0000
1:170544704:G:GG	acceptor_gain	1.0000
1:170544841:GCTCG:G	donor_gain	1.0000
1:170544844:CGGTG:C	donor_loss	1.0000
1:170544846:G:GG	donor_gain	1.0000
1:170544846:GTG:G	donor_loss	1.0000

AlphaMissense

2579 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000264581 (1:170541817 A>C), RS1000358494 (1:170547668 G>A), RS1000483659 (1:170541514 C>T), RS1000494122 (1:170554135 G>A,C,T), RS1000593050 (1:170535386 A>T), RS1000751494 (1:170541283 A>C), RS1001097215 (1:170552803 A>G), RS1001279217 (1:170532005 G>A), RS1001329969 (1:170532169 G>A,C,T), RS1001579483 (1:170537963 G>C), RS1001607218 (1:170535274 A>G,T), RS1001644265 (1:170542426 G>A,T), RS1001920071 (1:170549565 T>C,G), RS1001981415 (1:170542939 G>A,T), RS1002131774 (1:170536436 C>T)

Disease associations

OMIM: gene MIM:607983 | disease phenotypes: MIM:231070

GenCC curated gene-disease

Disease	Classification	Inheritance
geroderma osteodysplastica	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
geroderma osteodysplastica	Definitive	AR

Mondo (1): geroderma osteodysplastica (MONDO:0009271)

Orphanet (1): Geroderma osteodysplastica (Orphanet:2078)

HPO phenotypes

57 total (30 of 57 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000252	Microcephaly
HP:0000272	Malar flattening
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000478	Abnormality of the eye
HP:0000482	Microcornea
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000704	Periodontitis
HP:0000750	Delayed speech and language development
HP:0000768	Pectus carinatum
HP:0000926	Platyspondyly
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000963	Thin skin
HP:0000973	Cutis laxa
HP:0000974	Hyperextensible skin
HP:0001187	Hyperextensibility of the finger joints
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility
HP:0001510	Growth delay
HP:0001582	Redundant skin
HP:0001595	Abnormal hair morphology

GWAS associations

41 associations (top):

Study	Trait	p-value
GCST002782_57	Waist-to-hip ratio adjusted for body mass index	5.000000e-10
GCST002782_58	Waist-to-hip ratio adjusted for body mass index	3.000000e-09
GCST002782_59	Waist-to-hip ratio adjusted for body mass index	5.000000e-11
GCST002782_60	Waist-to-hip ratio adjusted for body mass index	2.000000e-10
GCST003983_30	Male-pattern baldness	1.000000e-09
GCST004064_1	Waist-hip ratio	8.000000e-09
GCST004064_75	Waist-hip ratio	7.000000e-07
GCST004505_56	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	2.000000e-07
GCST004505_57	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	8.000000e-08
GCST004507_21	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	7.000000e-06
GCST004507_6	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-06
GCST004508_45	Waist-to-hip ratio adjusted for BMI in non-smokers	5.000000e-06
GCST004508_46	Waist-to-hip ratio adjusted for BMI in non-smokers	3.000000e-06
GCST004567_113	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	4.000000e-09
GCST004567_54	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	9.000000e-12
GCST004576_102	Waist-to-hip ratio adjusted for body mass index	5.000000e-12
GCST004576_103	Waist-to-hip ratio adjusted for body mass index	4.000000e-10
GCST004577_3	Waist-to-hip ratio adjusted for BMI in inactive individuals	3.000000e-06
GCST004578_10	Waist-to-hip ratio adjusted for BMI in active individuals	9.000000e-08
GCST004578_66	Waist-to-hip ratio adjusted for BMI in active individuals	2.000000e-08
GCST005956_24	Waist-to-hip ratio adjusted for BMI	5.000000e-07
GCST005962_31	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-07
GCST006061_97	Atrial fibrillation	2.000000e-42
GCST006661_243	Male-pattern baldness	5.000000e-25
GCST006979_958	Heel bone mineral density	1.000000e-10
GCST010796_2318	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10
GCST010796_2319	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_2320	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-11
GCST010796_2321	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-11
GCST010796_2322	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004343	waist-hip ratio
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009270	heel bone mineral density
EFO:0004327	electrocardiography
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537799	Gerodermia osteodysplastica (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, decreases expression, increases abundance	2
Aflatoxin B1	affects expression, decreases methylation	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
salinomycin	decreases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	increases expression	1
MT19c compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Chelating Agents	affects binding, increases expression	1
Copper	affects binding, increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	decreases expression	1
Thiram	increases expression	1
Tunicamycin	increases expression	1
Valproic Acid	affects expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SQ29	HAP1 GORAB (-) 1	Cancer cell line	Male
CVCL_XP29	HAP1 GORAB (-) 2	Cancer cell line	Male
CVCL_XP30	HAP1 GORAB (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.