DDHD2 (DDHD domain containing 2)

Gene

• Entrez ID: 23259
• Gene name: DDHD domain containing 2
• Gene symbol: DDHD2
• Synonyms: SAMWD1, SPG54, iPLA(1)gamma, iPLA1A, iPLA1gamma, p125B
• Chromosome: 8
• Chromosome location: 8p11.23
• Summary: This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recess

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201258800	C>G,T	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant
rs373856119	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs375168720	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs398122826	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant, synonymous variant, 5 prime UTR variant
rs398122837	AT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs753950471	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs755267771	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs797045521	GG>TA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs867389476	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs886037659	C>G	Pathogenic	Genic downstream transcript variant, intron variant
rs939799061	C>A,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant, synonymous variant
rs1249841130	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1312739762	T>-,TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1424300803	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1475369039	A>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1554510884	->GATGCTGG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1554511216	AGACGATGTACGTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1554515767	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1585774873	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030366	hsa-miR-24-3p	Microarray	19748357
MIRT030682	hsa-miR-21-5p	Microarray	18591254
MIRT031442	hsa-miR-16-5p	Sequencing	20371350
MIRT047446	hsa-miR-10b-5p	CLASH	23622248
MIRT044196	hsa-miR-99b-5p	CLASH	23622248
MIRT105849	hsa-miR-5692a	PAR-CLIP	21572407
MIRT105846	hsa-miR-3646	PAR-CLIP	21572407
MIRT105845	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT105844	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT105850	hsa-miR-5692b	PAR-CLIP	21572407
MIRT105848	hsa-miR-5692c	PAR-CLIP	21572407
MIRT558441	hsa-miR-6831-3p	PAR-CLIP	21572407
MIRT527390	hsa-miR-3677-5p	PAR-CLIP	22012620
MIRT527391	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT527389	hsa-miR-1-5p	PAR-CLIP	22012620
MIRT527388	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT527387	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT527386	hsa-miR-4727-3p	PAR-CLIP	22012620
MIRT527384	hsa-miR-4460	PAR-CLIP	22012620
MIRT527385	hsa-miR-587	PAR-CLIP	22012620
MIRT733569	hsa-miR-296-3p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33479208
MIRT733569	hsa-miR-296-3p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33479208
MIRT105849	hsa-miR-5692a	PAR-CLIP	21572407
MIRT105846	hsa-miR-3646	PAR-CLIP	21572407
MIRT105845	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT105844	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT105850	hsa-miR-5692b	PAR-CLIP	21572407
MIRT105848	hsa-miR-5692c	PAR-CLIP	21572407
MIRT558441	hsa-miR-6831-3p	PAR-CLIP	21572407
MIRT527390	hsa-miR-3677-5p	PAR-CLIP	22012620
MIRT527391	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT527389	hsa-miR-1-5p	PAR-CLIP	22012620
MIRT527388	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT527387	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT527386	hsa-miR-4727-3p	PAR-CLIP	22012620
MIRT527384	hsa-miR-4460	PAR-CLIP	22012620
MIRT527385	hsa-miR-587	PAR-CLIP	22012620
MIRT929091	hsa-miR-103a	CLIP-seq
MIRT929092	hsa-miR-107	CLIP-seq
MIRT929093	hsa-miR-10a	CLIP-seq
MIRT929094	hsa-miR-10b	CLIP-seq
MIRT929095	hsa-miR-1207-3p	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929097	hsa-miR-1245b-3p	CLIP-seq
MIRT929098	hsa-miR-125a-3p	CLIP-seq
MIRT929099	hsa-miR-1276	CLIP-seq
MIRT929100	hsa-miR-1283	CLIP-seq
MIRT929101	hsa-miR-1290	CLIP-seq
MIRT929102	hsa-miR-1297	CLIP-seq
MIRT929103	hsa-miR-1299	CLIP-seq
MIRT929104	hsa-miR-1301	CLIP-seq
MIRT929105	hsa-miR-1343	CLIP-seq
MIRT929106	hsa-miR-146a	CLIP-seq
MIRT929107	hsa-miR-146b-5p	CLIP-seq
MIRT929108	hsa-miR-21	CLIP-seq
MIRT929109	hsa-miR-2110	CLIP-seq
MIRT929110	hsa-miR-25	CLIP-seq
MIRT929111	hsa-miR-26a	CLIP-seq
MIRT929112	hsa-miR-26b	CLIP-seq
MIRT929113	hsa-miR-3065-5p	CLIP-seq
MIRT929114	hsa-miR-3117-5p	CLIP-seq
MIRT929115	hsa-miR-3125	CLIP-seq
MIRT929116	hsa-miR-3150b-3p	CLIP-seq
MIRT929117	hsa-miR-3165	CLIP-seq
MIRT929118	hsa-miR-3167	CLIP-seq
MIRT929119	hsa-miR-32	CLIP-seq
MIRT929120	hsa-miR-345	CLIP-seq
MIRT929121	hsa-miR-3620	CLIP-seq
MIRT929122	hsa-miR-363	CLIP-seq
MIRT929123	hsa-miR-3647-3p	CLIP-seq
MIRT929124	hsa-miR-3665	CLIP-seq
MIRT929125	hsa-miR-367	CLIP-seq
MIRT929126	hsa-miR-369-3p	CLIP-seq
MIRT929127	hsa-miR-374a	CLIP-seq
MIRT929128	hsa-miR-374b	CLIP-seq
MIRT929129	hsa-miR-3916	CLIP-seq
MIRT929130	hsa-miR-3925-5p	CLIP-seq
MIRT929131	hsa-miR-4271	CLIP-seq
MIRT929132	hsa-miR-4311	CLIP-seq
MIRT929133	hsa-miR-4314	CLIP-seq
MIRT929134	hsa-miR-4465	CLIP-seq
MIRT929135	hsa-miR-4469	CLIP-seq
MIRT929136	hsa-miR-4477a	CLIP-seq
MIRT929137	hsa-miR-4503	CLIP-seq
MIRT929138	hsa-miR-4504	CLIP-seq
MIRT929139	hsa-miR-4522	CLIP-seq
MIRT929140	hsa-miR-4533	CLIP-seq
MIRT929141	hsa-miR-4646-5p	CLIP-seq
MIRT929142	hsa-miR-4650-5p	CLIP-seq
MIRT929143	hsa-miR-4652-3p	CLIP-seq
MIRT929144	hsa-miR-4661-3p	CLIP-seq
MIRT929145	hsa-miR-4667-5p	CLIP-seq
MIRT929146	hsa-miR-4689	CLIP-seq
MIRT929147	hsa-miR-4700-5p	CLIP-seq
MIRT929148	hsa-miR-4705	CLIP-seq
MIRT929149	hsa-miR-4725-3p	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929151	hsa-miR-4747-5p	CLIP-seq
MIRT929152	hsa-miR-4753-5p	CLIP-seq
MIRT929153	hsa-miR-4755-3p	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT929155	hsa-miR-4766-3p	CLIP-seq
MIRT929156	hsa-miR-4778-5p	CLIP-seq
MIRT929157	hsa-miR-4784	CLIP-seq
MIRT929158	hsa-miR-4793-5p	CLIP-seq
MIRT929159	hsa-miR-495	CLIP-seq
MIRT929160	hsa-miR-5047	CLIP-seq
MIRT929161	hsa-miR-512-5p	CLIP-seq
MIRT929162	hsa-miR-518d-5p	CLIP-seq
MIRT929163	hsa-miR-519b-5p	CLIP-seq
MIRT929164	hsa-miR-519c-5p	CLIP-seq
MIRT929165	hsa-miR-520c-5p	CLIP-seq
MIRT929166	hsa-miR-520d-5p	CLIP-seq
MIRT929167	hsa-miR-524-5p	CLIP-seq
MIRT929168	hsa-miR-526a	CLIP-seq
MIRT929169	hsa-miR-548p	CLIP-seq
MIRT929170	hsa-miR-552	CLIP-seq
MIRT929171	hsa-miR-583	CLIP-seq
MIRT929172	hsa-miR-590-5p	CLIP-seq
MIRT929173	hsa-miR-601	CLIP-seq
MIRT929174	hsa-miR-637	CLIP-seq
MIRT929175	hsa-miR-642a	CLIP-seq
MIRT929176	hsa-miR-875-3p	CLIP-seq
MIRT929177	hsa-miR-876-5p	CLIP-seq
MIRT929178	hsa-miR-92a	CLIP-seq
MIRT929179	hsa-miR-92b	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929180	hsa-miR-1286	CLIP-seq
MIRT929101	hsa-miR-1290	CLIP-seq
MIRT929104	hsa-miR-1301	CLIP-seq
MIRT929109	hsa-miR-2110	CLIP-seq
MIRT929181	hsa-miR-216b	CLIP-seq
MIRT929182	hsa-miR-3124-3p	CLIP-seq
MIRT929115	hsa-miR-3125	CLIP-seq
MIRT929116	hsa-miR-3150b-3p	CLIP-seq
MIRT929118	hsa-miR-3167	CLIP-seq
MIRT929123	hsa-miR-3647-3p	CLIP-seq
MIRT929129	hsa-miR-3916	CLIP-seq
MIRT929183	hsa-miR-3942-5p	CLIP-seq
MIRT929184	hsa-miR-4263	CLIP-seq
MIRT929131	hsa-miR-4271	CLIP-seq
MIRT929133	hsa-miR-4314	CLIP-seq
MIRT929185	hsa-miR-4509	CLIP-seq
MIRT929140	hsa-miR-4533	CLIP-seq
MIRT929144	hsa-miR-4661-3p	CLIP-seq
MIRT929186	hsa-miR-4663	CLIP-seq
MIRT929145	hsa-miR-4667-5p	CLIP-seq
MIRT929146	hsa-miR-4689	CLIP-seq
MIRT929147	hsa-miR-4700-5p	CLIP-seq
MIRT929187	hsa-miR-4703-5p	CLIP-seq
MIRT929188	hsa-miR-4710	CLIP-seq
MIRT929189	hsa-miR-4722-5p	CLIP-seq
MIRT929149	hsa-miR-4725-3p	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929190	hsa-miR-4742-5p	CLIP-seq
MIRT929191	hsa-miR-4744	CLIP-seq
MIRT929151	hsa-miR-4747-5p	CLIP-seq
MIRT929192	hsa-miR-4753-3p	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT929193	hsa-miR-4773	CLIP-seq
MIRT929157	hsa-miR-4784	CLIP-seq
MIRT929194	hsa-miR-4792	CLIP-seq
MIRT929195	hsa-miR-4799-5p	CLIP-seq
MIRT929160	hsa-miR-5047	CLIP-seq
MIRT929196	hsa-miR-513c	CLIP-seq
MIRT929197	hsa-miR-514b-5p	CLIP-seq
MIRT929198	hsa-miR-576-5p	CLIP-seq
MIRT929199	hsa-miR-628-5p	CLIP-seq
MIRT929174	hsa-miR-637	CLIP-seq
MIRT929177	hsa-miR-876-5p	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929105	hsa-miR-1343	CLIP-seq
MIRT1975151	hsa-miR-142-5p	CLIP-seq
MIRT929108	hsa-miR-21	CLIP-seq
MIRT1975152	hsa-miR-340	CLIP-seq
MIRT1975153	hsa-miR-4660	CLIP-seq
MIRT1975154	hsa-miR-4676-5p	CLIP-seq
MIRT929148	hsa-miR-4705	CLIP-seq
MIRT929188	hsa-miR-4710	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929190	hsa-miR-4742-5p	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT1975155	hsa-miR-4786-3p	CLIP-seq
MIRT929194	hsa-miR-4792	CLIP-seq
MIRT929158	hsa-miR-4793-5p	CLIP-seq
MIRT1975156	hsa-miR-501-3p	CLIP-seq
MIRT1975157	hsa-miR-502-3p	CLIP-seq
MIRT1975158	hsa-miR-548u	CLIP-seq
MIRT1975159	hsa-miR-575	CLIP-seq
MIRT929172	hsa-miR-590-5p	CLIP-seq
MIRT2210521	hsa-miR-1322	CLIP-seq
MIRT929115	hsa-miR-3125	CLIP-seq
MIRT929129	hsa-miR-3916	CLIP-seq
MIRT2210522	hsa-miR-548c-3p	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929188	hsa-miR-4710	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT929194	hsa-miR-4792	CLIP-seq
MIRT2514502	hsa-miR-3614-3p	CLIP-seq
MIRT2514503	hsa-miR-3672	CLIP-seq
MIRT2514504	hsa-miR-421	CLIP-seq
MIRT2514505	hsa-miR-4277	CLIP-seq
MIRT2514506	hsa-miR-595	CLIP-seq
MIRT2679139	hsa-miR-4307	CLIP-seq
MIRT2679140	hsa-miR-567	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004620	Function	Phospholipase activity	IBA	21873635
GO:0004806	Function	Triglyceride lipase activity	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0007626	Process	Locomotory behavior	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016020	Component	Membrane	IEA
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IBA	21873635
GO:0034389	Process	Lipid droplet organization	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0090141	Process	Positive regulation of mitochondrial fission	IEA

Other IDs

• MIM: 615003
• HGNC: 29106
• e!Ensembl: ENSG00000085788

Protein

• UniProt ID: O94830
• Protein name: Triacylglycerol hydrolase DDHD2 (TAG hydrolase) (EC 3.1.1.3) (DDHD domain-containing protein 2) (KIAA0725p) (Phospholipase DDHD2) (EC 3.1.1.-) (SAM, WWE and DDHD domain-containing protein 1) (Triglyceride hydrolase DDHD2) (Triglyceride lipase)
• Protein function: Diacylglycerol (DAG) and triacylglycerol (TAG) lipase required for proper lipid homeostasis in the central nervous system (PubMed:29278326, PubMed:37832604). It cooperates with PNPLA2/ATGL in neuronal TAG catabolism and hydrolyzes sn-1,3 DAG dow
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02825	WWE	42 → 112	WWE domain	Family
  PF00536	SAM_1	384 → 445	SAM domain (Sterile alpha motif)	Domain
  PF02862	DDHD	495 → 699	DDHD domain	Family

• Sequence:

  MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFN
  SEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGD
  KDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIILHNPKLMVHYQPVAGSDD
  WGSTPTEQGRPRTVKRGVENISVDIHCGEPLQIDHLVFVVHGIGPACDLRFRSIVQCVND
  FRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDVDLQRITLPSINRLRHFT
  NDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDI
  LTNQKDSLGDIDSEKDSLNIVMDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCT
  DRDLQEIGIPLGPRKKILNYFSTRKNSMGIKRPAPQPASGANIPKESEFCSSSNTRNGDY
  LDVGIGQVSVKYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPF
  DPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKS
  FTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRID
  YVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ

• Sequence length: 711

Pathways

Reactome:

Synthesis of PA

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epilepsy	Epilepsy, Generalized	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	23176823, 24337409, 25417924, 24517879
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	24517879, 25417924, 23176823, 24337409
Spastic paraplegia	Spastic Paraplegia, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 54	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	23176823, 25417924, 24482476, 23486545

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
High palate	Byzanthine arch palate
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Hypoplasia of optic disc	Hypoplasia of optic disc
Periventricular leukomalacia	Leukomalacia, Periventricular
Strabismus	Strabismus